How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?

American Journal of Medical Genetics, Part A

Volumn 155, Issue 4, 2011, Pages 880-884

  Ravel, Aimé ^a   Chouery, Eliane ^b   Stora, Samantha ^a   Jalkh, Nadine ^b   Villard, Laurent ^c   Temtamy, Samia ^d   Mégarbané, André ^a,b  

^a Institut Jerome Lejeune   (France)

^b SAINT JOSEPH UNIVERSITY   (Lebanon)

^c AIX MARSEILLE UNIVERSITY   (France)

^d NATIONAL RESEARCH CENTRE   (Egypt)

Author keywords

Array CGH; Brachydactyly; HOXD13; Intellectual disability; Malformations; MYCN; Syndactyly

Indexed keywords

ANTIBIOTIC AGENT;

ADULT; ARTICLE; ASTIGMATISM; BODY DYSMORPHIC DISORDER; BRACHYDACTYLY; CASE REPORT; CHROMOSOME 16P; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CREBBP GENE; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; ENOPHTHALMOS; GENE; GENE DELETION; HEARING IMPAIRMENT; HEART ATRIUM SEPTUM DEFECT; HETEROZYGOSITY; HOXD13 GENE; HUMAN; INTELLECTUAL IMPAIRMENT; KARYOTYPE 46,XX; LARGE EAR; MALE; MICROCEPHALY; MISSENSE MUTATION; MYOPIA; NYSTAGMUS; OTITIS; PRIORITY JOURNAL; PROGNATHIA; RUBINSTEIN SYNDROME; SEIZURE; SHORT STATURE; SYNDACTYLY; UMBILICAL HERNIA;

ADOLESCENT; CONGENITAL ABNORMALITIES; DUODENAL OBSTRUCTION; ESOPHAGEAL ATRESIA; EYELIDS; FACIES; FOOT DEFORMITIES, CONGENITAL; GROWTH DISORDERS; HAND DEFORMITIES, CONGENITAL; HETEROZYGOTE; HOMEODOMAIN PROTEINS; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; MENTAL RETARDATION; MICROCEPHALY; MUTATION, MISSENSE; NAILS, MALFORMED; PHENOTYPE; RUBINSTEIN-TAYBI SYNDROME; SYNDACTYLY; SYNDROME; TRANSCRIPTION FACTORS;

COLUMELLA;

EID: 79953324550     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33879     Document Type: Article

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